[Ring chromosome 22 associated with right polycystic kidney and a left junction syndrome]

The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.

Molecular genetics and metabolism reports·2025

[Necrotizing enterocolitis in a premature infant].

Medecine et maladies infectieuses·2024

Geometry of color perception. Part 2: perceived colors from real quantum states and Hering's rebit.

Journal of mathematical neuroscience·2020

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Neurogenetics·2018

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Eye (London, England)·2016

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Molecular psychiatry·2016

[Natal and neonatal teeth. Management].

Annales de pediatrie·1993

[Risks of failure of uncontrolled adoption of foreign children].

Annales de pediatrie·1993

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?].

Annales de pediatrie·1993

[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit].

Annales de pediatrie·1993

[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot].

Annales de pediatrie·1993

[Fulminant pneumococcal septicemia in a splenectomized child despite vaccination and chemoprophylaxis: necessity for education of the entourage].

Annales de pediatrie·1993

Chlorine-doped ruthenium-cobalt oxide nanoparticles anchored tin-doped titanium dioxide nanowire array photoanode for synchronous ammonia oxidation and organic pollutant degradation.

Environmental research·2026

Monodehydroascorbate reductases in plants: integrating ascorbate recycling, redox signaling, and stress adaptation.

Redox biology·2026

Biomimetic Total Syntheses of Dixiamycins A, B, and C via Riboflavin-Catalyzed Oxidative C-N and N-N Bond Formations.

Organic letters·2026

Photoredox/Nickel-Catalyzed Decarboxylative Monofluoromethylation of β-Boryl NHPI Esters via Radical 1,2-Boron Migration.

Organic letters·2026

Fluorinated Isoxazoles as Potential Fungicides: Tf2O-Induced Electrophilic Cyclization of O-Methyl Oximes.

Organic letters·2026

Pd(0)-Catalyzed Dual C-H Alkylation of Ferrocenes via Selective Functionalization of C,C-Palladacycles.

Organic letters·2026

Related Experiment Videos

[Ring chromosome 22 associated with right polycystic kidney and a left junction syndrome]

Related Concept Videos

The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.

[Necrotizing enterocolitis in a premature infant].

Geometry of color perception. Part 2: perceived colors from real quantum states and Hering's rebit.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

[Natal and neonatal teeth. Management].

[Risks of failure of uncontrolled adoption of foreign children].

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?].

[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit].

[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot].

[Fulminant pneumococcal septicemia in a splenectomized child despite vaccination and chemoprophylaxis: necessity for education of the entourage].

Chlorine-doped ruthenium-cobalt oxide nanoparticles anchored tin-doped titanium dioxide nanowire array photoanode for synchronous ammonia oxidation and organic pollutant degradation.

Monodehydroascorbate reductases in plants: integrating ascorbate recycling, redox signaling, and stress adaptation.

Biomimetic Total Syntheses of Dixiamycins A, B, and C via Riboflavin-Catalyzed Oxidative C-N and N-N Bond Formations.

Photoredox/Nickel-Catalyzed Decarboxylative Monofluoromethylation of β-Boryl NHPI Esters via Radical 1,2-Boron Migration.

Fluorinated Isoxazoles as Potential Fungicides: Tf2O-Induced Electrophilic Cyclization of O-Methyl Oximes.

Pd(0)-Catalyzed Dual C-H Alkylation of Ferrocenes via Selective Functionalization of C,C-Palladacycles.

Related Experiment Videos

[Ring chromosome 22 associated with right polycystic kidney and a left junction syndrome]

Related Concept Videos

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